NP_000332.2
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
63,401 Da
NCBI Official Full Name
neutral and basic amino acid transport protein rBAT
NCBI Official Synonym Full Names
solute carrier family 3 member 1
NCBI Protein Information
neutral and basic amino acid transport protein rBAT
UniProt Protein Name
Neutral and basic amino acid transport protein rBAT
UniProt Synonym Protein Names
D2h; Solute carrier family 3 member 1; b(0,+)-type amino acid transport protein
UniProt Synonym Gene Names
NCBI Summary for SLC3A1
This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
UniProt Comments for SLC3A1
SLC3A1: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule. Defects in SLC3A1 are a cause of cystinuria type 1 (CSNU1). Cystinuria (CSNU) arises from impaired transport of cystine and dibasic amino acids through the epithelial cells of the renal tubule and gastrointestinal tract. Defects in SLC3A1 are a cause of hypotonia-cystinuria syndrome (HCS). HCS is characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood.
Protein type: Membrane protein, integral; Mitochondrial; Transporter
Chromosomal Location of Human Ortholog: 2p21
Cellular Component: brush border membrane; membrane; plasma membrane
Molecular Function: amino acid transmembrane transporter activity; basic amino acid transmembrane transporter activity; L-cystine transmembrane transporter activity; protein binding
Biological Process: amino acid metabolic process; amino acid transport; basic amino acid transport; L-cystine transport
Disease: Cystinuria
Research Articles on SLC3A1
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with anti-SLC3A1 antibody
Pathways associated with anti-SLC3A1 antibody
Diseases associated with anti-SLC3A1 antibody
Organs/Tissues associated with anti-SLC3A1 antibody
|